770721009: syndrome de microcéphalie-corps calleux fin-déficience intellectuelle (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \leuco-encéphalopathie\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Finding of head region\leuco-encéphalopathie\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702242017	Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702243010	Microcephaly, thin corpus callosum, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
769741000241110	syndrome de microcéphalie-corps calleux fin-déficience intellectuelle (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
931821000172118	syndrome de microcéphalie-corps calleux fin-déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3702244016	A rare genetic syndromic intellectual disability disease with characteristics of progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. Caused by homozygous mutation in the TAF2 gene on chromosome 8q23.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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